Variant report

Variant	rs61928684
Chromosome Location	chr12:32222324-32222325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr12:32221819-32222570	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr12:32221734-32222620	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr12:32221731-32222692	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:32221883-32222453	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr12:32221988-32222418	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr12:32221868-32222502	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr12:32221802-32222556	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr12:32221809-32222535	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr12:32221868-32222400	HUVEC	blood vessel:	n/a	n/a
10	JUN	chr12:32221973-32222349	HUVEC	blood vessel:	n/a	n/a
11	GATA3	chr12:32221685-32222643	SK-N-SH	brain:	n/a	n/a
12	YY1	chr12:32221981-32222379	SK-N-SH	brain:	n/a	n/a
13	RXRA	chr12:32222009-32222517	SK-N-SH	brain:	n/a	chr12:32222194-32222203
14	ARID3A	chr12:32222000-32222367	HepG2	liver:	n/a	n/a
15	JUND	chr12:32221805-32222551	SK-N-SH	brain:	n/a	n/a
16	GATA2	chr12:32222002-32222505	HUVEC	blood vessel:	n/a	n/a
17	TCF12	chr12:32221689-32222625	SK-N-SH	brain:	n/a	n/a
18	EP300	chr12:32221952-32222411	SK-N-SH_RA	brain:	n/a	n/a
19	FOSL2	chr12:32221873-32222550	SK-N-SH	brain:	n/a	n/a
20	EP300	chr12:32221366-32222890	SK-N-SH	brain:	n/a	chr12:32221858-32221872
21	EP300	chr12:32221834-32222510	SK-N-SH_RA	brain:	n/a	chr12:32221858-32221872
22	GATA3	chr12:32221924-32222529	SH-SY5Y	brain:	n/a	n/a
23	JUND	chr12:32221869-32222573	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr12:32221878-32222503	SK-N-SH	brain:	n/a	n/a
25	FOSL2	chr12:32221895-32222430	A549	lung:	n/a	n/a
26	FOS	chr12:32221951-32222455	HUVEC	blood vessel:	n/a	chr12:32222140-32222151
27	GATA2	chr12:32221958-32222519	SH-SY5Y	brain:	n/a	n/a
28	EP300	chr12:32221851-32222525	SK-N-SH	brain:	n/a	chr12:32221858-32221872

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32221817..32224949-chr12:32258403..32261337,3	MCF-7	breast:
2	chr12:32193881..32196557-chr12:32221966..32223576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257852	TF binding region
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10771907	0.86[AFR][1000 genomes]
rs10771908	0.87[AFR][1000 genomes]
rs10771910	0.84[AFR][1000 genomes]
rs10771911	0.89[AFR][1000 genomes]
rs10771912	0.85[AFR][1000 genomes]
rs10771913	0.89[AFR][1000 genomes]
rs10844107	0.94[AFR][1000 genomes]
rs10844111	0.93[AFR][1000 genomes]
rs10844114	0.90[AFR][1000 genomes]
rs10844115	0.89[AFR][1000 genomes]
rs11051777	0.93[AFR][1000 genomes]
rs11051779	0.93[AFR][1000 genomes]
rs11051781	0.88[AFR][1000 genomes]
rs11051786	1.00[ASN][1000 genomes]
rs11051787	0.84[AFR][1000 genomes]
rs11051789	0.89[AFR][1000 genomes]
rs11613772	1.00[ASN][1000 genomes]
rs16919225	0.93[AFR][1000 genomes]
rs17512639	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389068	0.93[AFR][1000 genomes]
rs3867163	0.93[AFR][1000 genomes]
rs4616125	0.93[AFR][1000 genomes]
rs57767747	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928686	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928687	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61928688	1.00[ASN][1000 genomes]
rs6488030	0.93[AFR][1000 genomes]
rs7134602	0.89[AFR][1000 genomes]
rs7138326	0.89[AFR][1000 genomes]
rs7138578	0.89[AFR][1000 genomes]
rs7311255	0.91[AFR][1000 genomes]
rs7488254	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953627	0.93[AFR][1000 genomes]
rs7964630	0.93[AFR][1000 genomes]
rs7965238	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32221200-32222400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:32221200-32224000	Enhancers	Fetal Intestine Small	intestine
3	chr12:32221400-32223000	Enhancers	HUVEC	blood vessel
4	chr12:32221400-32224000	Enhancers	Fetal Intestine Large	intestine
5	chr12:32221600-32223400	Enhancers	Fetal Kidney	kidney
6	chr12:32221800-32222400	Flanking Active TSS	A549	lung
7	chr12:32221800-32222600	Flanking Active TSS	HepG2	liver
8	chr12:32221800-32222800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:32221800-32223400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:32222000-32222400	Enhancers	Liver	Liver
11	chr12:32222000-32222400	Weak transcription	Stomach Mucosa	stomach
12	chr12:32222200-32223200	Enhancers	Pancreatic Islets	Pancreatic Islet

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